Successful Chemotherapy on a Pregnant Non-Hodgkin's Lymphoma Patient

We report a case of a non-Hodgkin's lymphoma (NHL) patient treated successfully with combination chemotherapy during pregnancy who delivered a full-term baby. A 29 year-old patient with cervical and inguinal lymphadenopathy in the 27th week of gestation was referred to our hospital. The diagnosis of lymph node biopsy was NHL (diffuse, large cell type with B-cell phenotype). Three courses of CHOP regimen (adriamycin, cyclophosphamide, vincristine and prednisolone) were given before delivery. The patient has been in complete remission for three years and her baby has been in normal development. Our case supports previous reports that chemotherapy in the third trimester may be given safely on NHL patients.</p

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitivity to pain with anhidrosis (CIPA). We report here the second case of paternal UPD for chromosome 1 in a male patient with CIPA who developed normally at term and did not show overt dysmorphisms or malformations. He had only the usual features of CIPA with a homozygous mutation at the TRKA locus and a normal karyotype with no visible deletions or evidence of monosomy 1. Haplotype analysis of the TRKA locus and allelotype analyses of whole chromosome 1 revealed that the chromosome pair was exclusively derived from his father. Non-maternity was excluded by analyses of autosomes other than chromosome 1. Thus, we have identified a complete paternal isodisomy for chromosome 1 as the cause of reduction to homozygosity of the TRKA gene mutation, leading to CIPA. Our findings further support the idea that there are no paternally imprinted genes on chromosome 1 with a major effect on phenotype. UPD must be considered as a rare but possible cause of autosomal recessive disorders when conducting genetic testing

ヒト頼粒膜細胞における分化とステロイド分泌能に関する電子顕微鏡的研究

The cytodifferentiation and subcellular steroidogenic sites in the granulosa cell of the developing follicle and in vitro effect of estradiol-17β (E2) on the granulosa cell of the preovulatory follicle in the human ovary were investigated using the electron microscopic cytochemistry. The follicular cell in the primordial follicle showed an elongated nucleus, rough endoplasmic reticulum, Golgi apparatus, rod-shaped mitochondria with lamellar cristae, free ribosomes and a few lipid droplets. In the secondary follicle, the granulosa cell derived from the follicular cell had a round nucleus, rough endoplasmic reticulum, lipid droplets, Golgi apparatus, microfilament, mitochondria with lamellar or tubular cristae and a small amount of smooth endoplasmic reticulum. Especially, the granulosa cell in the preovulatory follicle considered to be a transitional form to the steroid-secreting cell was characteristic of rough endoplasmic reticulum, lipid droplets, mitochondria with lamellar or tubular cristae and moderately well developed smooth endoplasmic reticulum. On the other hand, the granulosa cell in the postovulatory follicle showing a typical steroid-secreting activity had abundant lipid droplets, round mitochondrial with tubular or vesicular cristae, well developed smooth endoplasmic reticulum and lysosomes. The hallmarks of the cytodifferentiation of the granulosa cell were i) an appearance of lipid droplets, ii) a structural change of mitochondrial cristae from lamellar to tubular configuration and iii) an appearance and development of smooth endoplasmic reticulum. Reaction products for 3β-hydroxysteroid dehydrogenase (3β-HSD) activity were localized on tubular or lamellar cristae and inner membrane of the mitochondria, and on the membrane of smooth endoplasmic reticulum in the granulosa cell of the preovulatory as well as of the postovulatory follicle. The granulosa cell of the preovulatory follicle incubated in the medium containing E2 showed a structural change of mitochondrial cristae from lamellar to tubular configuration, and an appearance and development of smooth endoplasmic reticulum. From these facts, it is suggested that the granulosa cell in the preovulatory follicle has already a steroid-secreting activity and luteinizes abruptly, and E2 contained in the culture medium could stimulate the functional differentiation of the granulosa cell in the prevulatory follicle affected with gonadotrophin